|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.
|
25149939 |
2014 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).
|
25637190 |
2015 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).
|
25637190 |
2015 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.
|
26019327 |
2015 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
CausalMutation
|
CLINVAR |
Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.
|
26019327 |
2015 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
|
Niemann-Pick Disease, Type C1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Here we expanded the analysis to cell lines carrying the prevalent mutation c.3182T>C and the novel mutation c.1180T>C, as well as to the determination of GM2 and GM3 gangliosides in NPC1 patient-specific iPSC-derived neurons and glia cells.
|
27923633 |
2017 |